• Gene id: 3174

Gene Summary

• Gene Symbol: HNF4G   Gene   UCSC   Ensembl
• Aliases: NR2A2, NR2A3
• Gene name: hepatocyte nuclear factor 4 gamma
• Alternate names: hepatocyte nuclear factor 4-gamma, HNF-4-gamma, nuclear receptor subfamily 2 group A member 2,
• Gene location: 8q21.13 (75407566: 75566833)     Exons: 15     NC_000008.11
• OMIM: 605966

Protein Summary

• Protein general information: Q14541  
  • Name: Hepatocyte nuclear factor 4 gamma (HNF 4 gamma) (Nuclear receptor subfamily 2 group A member 2)
  • Length: 408  
  • Mass: 45877
  • Tissue specificity: Expressed in pancreas, kidney, small intestine and testis. Weakly expressed in colon. Not expressed in liver, skeletal muscle, lung, placenta, brain, heart, peripheral blood, ovary, prostate, thymus and spleen.
• Sequence:

  MNTTDNGVNCLCAICGDRATGKHYGASSCDGCKGFFRRSIRKSHVYSCRFSRQCVVDKDKRNQCRYCRLRKCFRA
  GMKKEAVQNERDRISTRRSTFDGSNIPSINTLAQAEVRSRQISVSSPGSSTDINVKKIASIGDVCESMKQQLLVL
  VEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMMYKDILLLGNNYVIHRNSCEVEISRVANRVLDELVR
  PFQEIQIDDNEYACLKAIVFFDPDAKGLSDPVKIKNMRFQVQIGLEDYINDRQYDSRGRFGELLLLLPTLQSITW
  QMIEQIQFVKLFGMVKIDNLLQEMLLGGASNDGSHLHHPMHPHLSQDPLTGQTILLGPMSTLVHADQISTPETPL
  PSPPQGSGQEQYKIAANQASVISHQHLSKQKQL

• Structural information:
  • Protein Domains: (99..32-)
    (/note="NR-LBD)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01189"-)
  • Interpro: IPR035500  IPR000536  IPR001723  IPR001628  IPR013088  
  • Prosite: PS51843 PS00031 PS51030
  • PDB: 1LV2
  • PDBsum: 1LV2
  • STRING: ENSP00000379701
• Other Databases: GeneCards:  HNF4G  Malacards:  HNF4G

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0030154	cell differentiation	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0048856	anatomical structure development	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003707	steroid hormone receptor activity	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0042025	host cell nucleus	IEA	cellular component
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04950	Maturity onset diabetes of the young

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)